Gene Report

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Basic Info

Approved Symbol	CRBN
Previous Symbol	MRT2A
Symbol Alias	MRT2
Approved Name	cereblon
Previous Name	mental retardation, non-syndromic, autosomal recessive, 2A
Location	3p26.3
Position	chr3:3148992-3179710, -1
External Links	HGNC: 30185 Entrez Gene: 51185 Ensembl: ENSG00000113851 UCSC: uc003bpq.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Noor A., 2014		Selected stringent CNV related to this gene is validated by qPCR from BD case data.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016020	membrane	cellular component	IEA	137
GO:0005634	nucleus	cellular component	IDA[20223979]	283

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0034766	negative regulation of ion transmembrane transport	biological process	IEA	1
GO:0031464	Cul4A-RING E3 ubiquitin ligase complex	cellular component	IDA[20223979]	2
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0090073	positive regulation of protein homodimerization activity	biological process	IEA	1
GO:0004176	ATP-dependent peptidase activity	molecular function	IEA	1
GO:0032463	negative regulation of protein homooligomerization	biological process	IEA	2
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	biological process	IMP[20223979]	13
GO:0005515	protein binding	molecular function	IPI[20223979]	563
GO:0005730	nucleolus	cellular component	IDA	28
GO:0005737	cytoplasm	cellular component	IDA[20223979]	322
GO:0016567	protein ubiquitination	biological process	IEA; IMP[20223979]	18

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Abdul Noor[2014]_25	chr3:38411-3305438 (NCBI Build 36/hg18)	3	3p26.3	deletion

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 3	chr3:0-198295559	2 (0/2/0)
3p24-p26	chr3:0-30800000	1 (0/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr3:3148992..3179710 View in gBrowse